14p13-q12CNV Type: Duplication
Largest CNV size: 32427778 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo duplication (in the form of a nonmosaic supernumerary chromosome 14) spanning this region was identified in a male patient with severe developmental delay (Qi et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A new small supernumerary marker chromosome involving 14pter q12 in a child with severe neurodevelopmental retardation: case report and literatur...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
qi_13_DD_discovery_cases
Only child of healthy, non-consanguineous parents with nonmosaic small supernumerary chromosome (sSMC) derived from chromosome 14, resulting in trisomy 14pter->q12
1
Severe developmental delay, facial dysmorphism, generalized hypotonia, structural brain abnormalities, and severe cognitive and motor impairment
27 mos.
Male
32427778
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
qi_13_DD_discovery_cases-case1
27 mos.
M
Developmental delay
Birth/neonatal history: ultrasound indicated oligohydramnios at 24 weeks gestation (mother refused amniocentesis as advised); born at 40 weeks via normal spontaneous vaginal delivery; birth weight 2500 g (3rd %ile), birth length 47 cm (10th %ile), birth head circumference 34 cm (10th %ile). Developmental milestones: unable to sit, stand or walk without support and unable to say a single word at 27 months. Motor and musculoskeletal evaluation: generalized hypotonia. Brain imaging: brain MRI revealed decreased cerebellar volume and wider spaces surrounding cerebellar hemispheres. Other features: recurrent respiratory infections (hospitalized for pneumonia at age of 7 months), hypogammaglobulinemia, feeding difficulties (required assistance to eat blended foods despite normal dentition). Dysmorphic features: slight facial asymmetry, hypotelorism, blepharophimosis, down-slanting eyes, epicanthal folds, mild ptosis, saddle-like short nose with anteverted nares, high-arched palate, low-set ears, transverse palmar creases. Growth parameters: height of 80 cm (1st %ile), weight of 12 kg (3rd %ile), and head circumference of 48 cm (5th %ile) at age of 27 months. Family history: only child of healthy non-consanguineous parents (mother was 29 and father was 31 years old at time of conception). Karyotype: nonmosaic sSMC 14; 47, XY, +mar.ish der(14)(pter->q12:)(D14Z1/D22Z1+)de novo.
Severe developmental delay (based on neurologic and psychomotor evaluation)
1
32427778
32427778
Unknown
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
qi_13_DD_discovery_cases-case1
Array SNP (Affymetrix 6.0), FISH
De novo
Simplex
Segregated
OR11H12,POTEG,POTEM,OR11H2,OR4Q3,OR4M1,OR4N2,OR4K2,OR4K5,OR4K1,OR4K15,OR4K14,OR4K13,OR4L1,OR4K17,OR4N5,OR11G2,OR11H6,OR11H4,TTC5,CCNB1IP1,PARP2,TEP1,KLHL33,OSGEP,APEX1,TMEM55B,PNP,RNASE10,RNASE9,RNASE11,RNASE12,OR6S1,ANG,RNASE4,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,METTL17,SLC39A2,NDRG2,TPPP2,RNASE13,RNASE7,RNASE8,ARHGEF40,ZNF219,TMEM253,OR5AU1,HNRNPC,RPGRIP1,SUPT16H,CHD8,RAB2B,TOX4,METTL3,SALL2,OR10G3,OR10G2,OR4E2,DAD1,ABHD4,OXA1L,SLC7A7,MRPL52,MMP14,LRP10,REM2,RBM23,PRMT5,HAUS4,AJUBA,C14orf93,PSMB5,PSMB11,CDH24,ACIN1,C14orf119,CEBPE,SLC7A8,C14orf164,HOMEZ,PPP1R3E,BCL2L2,BCL2L2-PABPN1,PABPN1,SLC22A17,EFS,IL25,CMTM5,MYH6,MYH7,NGDN,ZFHX2,THTPA,AP1G2,JPH4,DHRS2,DHRS4,DHRS4L2,DHRS4L1,LRRC16B,CPNE6,NRL,PCK2,DCAF11,FITM1,PSME1,EMC9,PSME2,RNF31,IRF9,REC8,IPO4,TM9SF1,TSSK4,CHMP4A,MDP1,NEDD8-MDP1,NEDD8,GMPR2,TINF2,TGM1,RABGGTA,DHRS1,NOP9,CIDEB,LTB4R2,LTB4R,ADCY4,RIPK3,NFATC4,NYNRIN,CBLN3,KHNYN,SDR39U1,CMA1,CTSG,GZMH,GZMB,STXBP6,NOVA1,FOXG1,PRKD1,G2E3,SCFD1,COCH,STRN3,AP4S1,HECTD1,HEATR5A,DTD2,GPR33,NUBPL
Controls
No Control Data Available
No Animal Model Data Available